June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Phenotypic characteristics and natural history of choroideremia.
Author Affiliations & Notes
  • Talal Alabduljalil
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
    Ophthalmology and vision sciences, University of Toronto, Toronto, ON, Canada
  • Marcela Paz Perez Araya
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
    Ophthalmology and vision sciences, University of Toronto, Toronto, ON, Canada
  • Heather Trang
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
  • Vaishnavi Batmanabe
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
  • Chelsea Roadhouse
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
  • Elise Heon
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
    Ophthalmology and vision sciences, University of Toronto, Toronto, ON, Canada
  • Ajoy Vincent
    Ophthalmology, SickKids Hospital, Toronto, ON, Canada
    Ophthalmology and vision sciences, University of Toronto, Toronto, ON, Canada
  • Footnotes
    Commercial Relationships Talal Alabduljalil, None; Marcela Perez Araya, None; Heather Trang, None; Vaishnavi Batmanabe, None; Chelsea Roadhouse, None; Elise Heon, None; Ajoy Vincent, None
  • Footnotes
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Investigative Ophthalmology & Visual Science June 2015, Vol.56, 3838. doi:
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      Talal Alabduljalil, Marcela Paz Perez Araya, Heather Trang, Vaishnavi Batmanabe, Chelsea Roadhouse, Elise Heon, Ajoy Vincent, ; Phenotypic characteristics and natural history of choroideremia.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3838.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To evaluate the clinical phenotype and natural history of choroideremia in a molecularly confirmed cohort of 26 patients

Methods: Retrospective observational case series. A comprehensive chart review of all the choroideremia cases seen at the hospital of SickKids was performed. Twenty-six subjects from 21 families with REP1 gene mutation were identified. Visual acuity, color vision, contrast sensitivity, fundus evaluation and Goldmann visual field were recorded. Spectral-domain optical coherence tomography data were analyzed when available. Patient’s data at their first visit was further analyzed based on age; two groups were created; Group-1 < 40 years of age, and group-2: 40 years or older. Follow-up data was collected when available (Range 0 -18 years).

Results: The mean age at presentation (n=26) was 40 years (range 11-68 years). Twenty one were categorized into group-1 and five as group-2. The mean visual acuity (at first visit) in the cohort was 0.08 LogMAR (range 0.0-0.48 LogMAR). 91% of group-1 subjects had visual acuity of 0.1 LogMAR or better; only 20% of group-2 subjects had visual acuity 0.1 LogMAR or better. At presentation, color vision was normal in 63% of group-1 and 20% of group-2 subjects. Contrast sensitivity was normal (1.5 LogMAR) in 69% of group-1, but all group-2 subjects had abnormal contrast sensitivity. Central visual field greater than 20o x 20o to Goldmann III4e target was maintained in 94% in group-1 and 25% in group-2.

Conclusions: Choroideremia is a progressive disorder, where central visual parameters appear to be severely compromised beyond 40 years of age. This study provides phenotypic characteristics of choroideremia at different ages that may guide the time of intervention in gene therapy trials.

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